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Gangliosidosis (GM2 Type I) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 30 |
| Mutation | c.967G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GM2, B variant |
Informations générales
Gangliosidosis (GM2 Type I) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXA in the Japanese Chin dog (also known as Japanese Spaniël).
Caractéristiques cliniques
Dogs affected with Gangliosidosis GM2 type 1 can show a variety of symptoms including lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. The disease is progressive and is likely to lead to death within several months. Euthanasia on humane grounds is likely to be considered.
Additional Information
Références
Pubmed ID: 23266199
Year published: 2013
Omia ID: 1461
Omia variant ID: 26